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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1980 2
1981 1
1989 22
1990 78
1991 64
1992 100
1993 103
1994 159
1995 110
1996 98
1997 101
1998 123
1999 152
2000 260
2001 378
2002 297
2003 382
2004 700
2005 628
2006 514
2007 486
2008 474
2009 541
2010 719
2011 774
2012 662
2013 600
2014 511
2015 445
2016 390
2017 379
2018 410
2019 426
2020 401
2021 302
2022 156
2023 136
2024 90

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10,955 results

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Page 1
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. McCormick EM, et al. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 32906214 Free PMC article.
The Human Pangenome Project: a global resource to map genomic diversity.
Wang T, Antonacci-Fulton L, Howe K, Lawson HA, Lucas JK, Phillippy AM, Popejoy AB, Asri M, Carson C, Chaisson MJP, Chang X, Cook-Deegan R, Felsenfeld AL, Fulton RS, Garrison EP, Garrison NA, Graves-Lindsay TA, Ji H, Kenny EE, Koenig BA, Li D, Marschall T, McMichael JF, Novak AM, Purushotham D, Schneider VA, Schultz BI, Smith MW, Sofia HJ, Weissman T, Flicek P, Li H, Miga KH, Paten B, Jarvis ED, Hall IM, Eichler EE, Haussler D; Human Pangenome Reference Consortium. Wang T, et al. Nature. 2022 Apr;604(7906):437-446. doi: 10.1038/s41586-022-04601-8. Epub 2022 Apr 20. Nature. 2022. PMID: 35444317 Free PMC article. Review.
Chromosome-scale haplotype-resolved pangenomics.
Garg S, Balboa R, Kuja J. Garg S, et al. Trends Genet. 2022 Nov;38(11):1103-1107. doi: 10.1016/j.tig.2022.06.011. Epub 2022 Jul 8. Trends Genet. 2022. PMID: 35817620
Phasing DNA Methylation.
Akbari V, Jones SJM. Akbari V, et al. Methods Mol Biol. 2023;2590:219-235. doi: 10.1007/978-1-0716-2819-5_14. Methods Mol Biol. 2023. PMID: 36335502
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, Banks E, Garimella KV, Altshuler D, Gabriel S, DePristo MA. Van der Auwera GA, et al. Curr Protoc Bioinformatics. 2013;43(1110):11.10.1-11.10.33. doi: 10.1002/0471250953.bi1110s43. Curr Protoc Bioinformatics. 2013. PMID: 25431634 Free PMC article.
Haplotype-association analysis.
Liu N, Zhang K, Zhao H. Liu N, et al. Adv Genet. 2008;60:335-405. doi: 10.1016/S0065-2660(07)00414-2. Adv Genet. 2008. PMID: 18358327 Review.
Targeted Locus Amplification and Haplotyping.
Lefferts JW, Boersma V, Hagemeijer MC, Hajo K, Beekman JM, Splinter E. Lefferts JW, et al. Methods Mol Biol. 2023;2590:31-48. doi: 10.1007/978-1-0716-2819-5_2. Methods Mol Biol. 2023. PMID: 36335490
MALDI-TOF mass spectrometry.
van den Boom D, Wjst M, Everts RE. van den Boom D, et al. Methods Mol Biol. 2013;1015:71-85. doi: 10.1007/978-1-62703-435-7_4. Methods Mol Biol. 2013. PMID: 23824849
10,955 results
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